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TITLE: ARTICLE Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
AUTHORS: Kornak, Uwe; Saha, Namrata; Keren, Boris; Neumann, Alexander; Tavares, Ana Lisa Taylor; Piard, Juliette; Kopp, Johannes; Alves, Joao Guilherme Rodrigues; de los Santos, Miguel Rodriguez; El Choubassi, Naji; Ehmke, Nadja; Jaeger, Marten; Spielmann, Malte; Pantel, Jean Tori; Lejeune, Elodie; Fauler, Beatrix; Mielke, Thorsten; Hecht, Jochen; Meierhofer, David; Strom, Tim M.; Laugel, Vincent; Brice, Alexis; Mundlos, Stefan; Bertoli Avella, Aida; Bauer, Peter; Heyd, Florian; Boute, Odile; Dupont, Juliette; Depienne, Christel; Van Maldergem, Lionel; Fischer Zirnsak, Bjoern; ...More
PUBLISHED: 2022, SOURCE: GENETICS IN MEDICINE, VOLUME: 24, ISSUE: 9
INDEXED IN: WOS